Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency
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Published:2016-03
Issue:3
Volume:123
Page:571-582
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ISSN:0161-6420
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Container-title:Ophthalmology
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language:en
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Short-container-title:Ophthalmology
Author:
Brooks Brian P.,
Thompson Amy H.,
Sloan Jennifer L.ORCID,
Manoli Irini,
Carrillo-Carrasco Nuria,
Zein Wadih M.,
Venditti Charles P.
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3. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type;Lerner-Ellis;Nat Genet,2006
4. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte;Weisfeld-Adams;Mol Genet Metab,2010
5. Cusmano-Ozog K, Levine S, Martin M, et al. Cobalamin C disease identified by newborn screening: the California experience. In: Program and abstracts for the SIMD annual meeting. Mol Genet Metab 2007;90:227–65. Available at: http://www.mgmjournal.com/article/S1096-7192(06)00391-X/abstract.
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